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Male factor- karyotyping test results?? Possible klinefelters?

Hello,
My DH had a karyotyping test taken in April by his endocrinologist following referral for low Testosterone and high LH and FSH. This is to rule out or confirm Klinefelters syndrome. He was told that the results "could take some time". 6 months later and we have had nothing about these. I think it's ridiculous.

I suppose I am wondering if anyone else has had this test and how long did you wait for it? He has had a genetic screen for a surplus iron condition ( haematochromosis) which came back clear, thankfully. I don't know the details of the karyotyping ( as they were not really explained ) but I imagine if they are doing a general screen of the chromosomes, it takes longer because they don't know what to look for, where as the Haematochromosis was specific enough that it was a quicker turnaround.

He has a follow up appointment with the Endo guy in November but it frustrating for him in the mean time.

Also looking for any others who are dealing with high t, low LH&FSH for some idea of how your investigations and treatments have happened so far?

Hi Misspooh, hope I can help as my job is karyotyping! Klinefelter's is, you maybe know already, the presence of an extra X chromosome in the male. So where a "normal" male karyotype is 46,XY, a Klinefelter karyotype would be 47,XXY. The extra X chromosome doesn't always appear in every cell - this is "mosaic" Klinefelter's and involves a little extra work to detect, but it definitely should not take 6 months! A maximum reporting time of 28 days is usual for this type of test, and in reality a result can be obtained within a week or two. Of course, backlogs are always possible in diagnostic labs but this does sound like an unusually long time to wait - I would chase it up with your endocrinologist.

Thank you for the reply, I appreciate the professional opinion. Definitely sounds though something is amiss here, I knew something wasn't right. Either that or we have completely misunderstood the doctor. Of course lab turnarounds can be affected by volume etc ( I work in a lab and consultancy environment too) but we were told we would get results in writing from the endocrinologist too. And we have so far for every test except the karyotyping. Am I being stupid ( please tell me if I am), is the haemochromotosis genotyping a specific test, or would this have been included as part of a karyotyping test?? The letter says the result of his haemochromotosis genotyping was normal and the haemochromotosis mutation was not present. Does that mean his overall karyotyping is normal? The way it was explained to us at the time we thought it was 2 separate tests and now I am wondering if this is wrong? When the nurse took his bloods for these tests it was different tubes of blood taken for each ( karyotyping, haemochromotosis, PSA, ferritin - 7 tubes altogether).

Yup, you're quite right - they are two completely separate tests. If the letter had contained the karyotype result, it would say something along the lines of "chromosome studies showed an apparently normal 46,XY male karyotype" (assuming a normal result). It doesn't sound like you've been provided with that information, so it's definitely worth asking your doctor/endocrinologist to clarify for you and chase it up if necessary. I hope you get to the bottom of it soon!

Cool at least we are not going mad. Thanks so much for the advice and reassurance. Think I will get my husband to phone the clinic and see what he can find out. If they have written to tell him about one negative test, why haven't they written about the next, regardless of whether it's good or bad news.
Cheers Moogle!
Xx